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Understanding and Managing Scleroderma
Understanding and Managing Scleroderma A publication of Scleroderma Foundation 300 Rosewood Drive, Suite 105 Danvers, MA 01923 Maureen D. Mayes, M.D., M.P.H. Understanding and Understanding My notes and Managing Scleroderma Managing Scleroderma This booklet is intended to help people with scleroderma, their families and others interested ________________________ in learning more about the disease to better understand what scleroderma is, what effects ________________________ it may have, and what those with scleroderma can do to help themselves and their physicians ________________________ manage the disease. It answers some of the most frequently asked questions about ________________________ A publication of Maureen D. Mayes, M.D., M.P.H. Scleroderma Foundation 300 Rosewood Drive, Suite 105 scleroderma. Danvers, MA 01923 800-722-HOPE (4673) www.scleroderma.org www.facebook.com/sclerodermaUS www.twitter.com/scleroderma ________________________ Disclaimer The Scleroderma Foundation does not provide medical advice nor does it ________________________ endorse any drug or treatment mentioned herein. ________________________ The material contained in this booklet is presented for general information only. It is not intended to provide medical advice, to answer questions specific to the condition or problems of particular individuals, nor in ________________________ any way to substitute for the professional advice and care of qualified physicians. Mention of particular drugs and/or treatments is for ________________________ information purposes only and does not constitute an endorsement of said drugs and/or treatments. ________________________ Thanks! ________________________ The Scleroderma Foundation expresses its deep appreciation to the many ________________________ physicians whose efforts have led to this booklet. Special thanks are owed to Maureen D. Mayes, M.D., M.P.H., of the ________________________ University of Texas McGovern Medical School, Houston. -
Dermatological Findings in Common Rheumatologic Diseases in Children
Available online at www.medicinescience.org Medicine Science ORIGINAL RESEARCH International Medical Journal Medicine Science 2019; ( ): Dermatological findings in common rheumatologic diseases in children 1Melike Kibar Ozturk ORCID:0000-0002-5757-8247 1Ilkin Zindanci ORCID:0000-0003-4354-9899 2Betul Sozeri ORCID:0000-0003-0358-6409 1Umraniye Training and Research Hospital, Department of Dermatology, Istanbul, Turkey. 2Umraniye Training and Research Hospital, Department of Child Rheumatology, Istanbul, Turkey Received 01 November 2018; Accepted 19 November 2018 Available online 21.01.2019 with doi:10.5455/medscience.2018.07.8966 Copyright © 2019 by authors and Medicine Science Publishing Inc. Abstract The aim of this study is to outline the common dermatological findings in pediatric rheumatologic diseases. A total of 45 patients, nineteen with juvenile idiopathic arthritis (JIA), eight with Familial Mediterranean Fever (FMF), six with scleroderma (SSc), seven with systemic lupus erythematosus (SLE), and five with dermatomyositis (DM) were included. Control group for JIA consisted of randomly chosen 19 healthy subjects of the same age and gender. The age, sex, duration of disease, site and type of lesions on skin, nails and scalp and systemic drug use were recorded. χ2 test was used. The most common skin findings in patients with psoriatic JIA were flexural psoriatic lesions, the most common nail findings were periungual desquamation and distal onycholysis, while the most common scalp findings were erythema and scaling. The most common skin finding in patients with oligoarthritis was photosensitivity, while the most common nail finding was periungual erythema, and the most common scalp findings were erythema and scaling. We saw urticarial rash, dermatographism, nail pitting and telogen effluvium in one patient with systemic arthritis; and photosensitivity, livedo reticularis and periungual erythema in another patient with RF-negative polyarthritis. -
Visual Recognition of Autoimmune Connective Tissue Diseases
Seeing the Signs: Visual Recognition of Autoimmune Connective Tissue Diseases Utah Association of Family Practitioners CME Meeting at Snowbird, UT 1:00-1:30 pm, Saturday, February 13, 2016 Snowbird/Alta Rick Sontheimer, M.D. Professor of Dermatology Univ. of Utah School of Medicine Potential Conflicts of Interest 2016 • Consultant • Paid speaker – Centocor (Remicade- – Winthrop (Sanofi) infliximab) • Plaquenil – Genentech (Raptiva- (hydroxychloroquine) efalizumab) – Amgen (etanercept-Enbrel) – Alexion (eculizumab) – Connetics/Stiefel – MediQuest • Royalties Therapeutics – Lippincott, – P&G (ChelaDerm) Williams – Celgene* & Wilkins* – Sanofi/Biogen* – Clearview Health* Partners • 3Gen – Research partner *Active within past 5 years Learning Objectives • Compare and contrast the presenting and Hallmark cutaneous manifestations of lupus erythematosus and dermatomyositis • Compare and contrast the presenting and Hallmark cutaneous manifestations of morphea and systemic sclerosis Distinguishing the Cutaneous Manifestations of LE and DM Skin involvement is 2nd most prevalent clinical manifestation of SLE and 2nd most common presenting clinical manifestation Comprehensive List of Skin Lesions Associated with LE LE-SPECIFIC LE-NONSPECIFIC Cutaneous vascular disease Acute Cutaneous LE Vasculitis Leukocytoclastic Localized ACLE Palpable purpura Urticarial vasculitis Generalized ACLE Periarteritis nodosa-like Ten-like ACLE Vasculopathy Dego's disease-like Subacute Cutaneous LE Atrophy blanche-like Periungual telangiectasia Annular Livedo reticularis -
Focal Eosinophilic Myositis Presenting with Leg Pain and Tenderness
CASE REPORT Ann Clin Neurophysiol 2020;22(2):125-128 https://doi.org/10.14253/acn.2020.22.2.125 ANNALS OF CLINICAL NEUROPHYSIOLOGY Focal eosinophilic myositis presenting with leg pain and tenderness Jin-Hong Shin1,2, Dae-Seong Kim1,2 1Department of Neurology, Research Institute for Convergence of Biomedical Research, Pusan National University Yangsan Hospital, Yangsan, Korea 2Department of Neurology, Pusan National University School of Medicine, Yangsan, Korea Focal eosinophilic myositis (FEM) is the most limited form of eosinophilic myositis that com- Received: September 11, 2020 monly affects the muscles of the lower leg without systemic manifestations. We report a Revised: September 29, 2020 patient with FEM who was studied by magnetic resonance imaging and muscle biopsy with Accepted: September 29, 2020 a review of the literature. Key words: Myositis; Eosinophils; Magnetic resonance imaging Correspondence to Dae-Seong Kim Eosinophilic myositis (EM) is defined as a group of idiopathic inflammatory myopathies Department of Neurology, Pusan National associated with peripheral and/or intramuscular eosinophilia.1 Focal eosinophilic myositis Univeristy School of Medicine, 20 Geu- mo-ro, Mulgeum-eup, Yangsan 50612, (FEM) is the most limited form of EM and is considered a benign disorder without systemic 2 Korea manifestations. Here, we report a patient with localized leg pain and tenderness who was Tel: +82-55-360-2450 diagnosed as FEM based on laboratory findings, magnetic resonance imaging (MRI), and Fax: +82-55-360-2152 muscle biopsy. E-mail: [email protected] ORCID CASE Jin-Hong Shin https://orcid.org/0000-0002-5174-286X A 26-year-old otherwise healthy man visited our outpatient clinic with leg pain for Dae-Seong Kim 3 months. -
Muscle Biopsy Features of Idiopathic Inflammatory Myopathies And
Autoimmun Highlights (2014) 5:77–85 DOI 10.1007/s13317-014-0062-2 REVIEW ARTICLE Muscle biopsy features of idiopathic inflammatory myopathies and differential diagnosis Gaetano Vattemi • Massimiliano Mirabella • Valeria Guglielmi • Matteo Lucchini • Giuliano Tomelleri • Anna Ghirardello • Andrea Doria Received: 1 August 2014 / Accepted: 22 August 2014 / Published online: 10 September 2014 Ó Springer International Publishing Switzerland 2014 Abstract The gold standard to characterize idiopathic Keywords Inflammatory myopathy Á Autoimmune inflammatory myopathies is the morphological, immuno- myositis Á Histopathology Á Differential diagnosis histochemical and immunopathological analysis of muscle biopsy. Mononuclear cell infiltrates and muscle fiber necrosis are commonly shared histopathological features. Introduction Inflammatory cells that surround, invade and destroy healthy muscle fibers expressing MHC class I antigen are Idiopathic inflammatory myopathies (IIM) are a heteroge- the typical pathological finding of polymyositis. Perifas- neous group of acquired muscle diseases, which have dis- cicular atrophy and microangiopathy strongly support a tinct clinical, pathological and histological features [1, 2]. diagnosis of dermatomyositis. Randomly distributed The most common IIM seen in clinical practice can be necrotic muscle fibers without mononuclear cell infiltrates separated into four categories including polymyositis (PM), represent the histopathological hallmark of immune-med- dermatomyositis (DM), immune-mediated necrotizing iated necrotizing myopathy; meanwhile, endomysial myopathy (NM) and sporadic inclusion body myositis inflammation and muscle fiber degeneration are the two (sIBM) [1, 3]. main pathological features in sporadic inclusion body In the diagnostic workup of an inflammatory myopathy, myositis. A correct differential diagnosis requires immu- muscle biopsy is an indispensable and sensitive tool for nopathological analysis of the muscle biopsy and has establishing the diagnosis. -
Eosinophilic Fasciitis: Typical Abnormalities
Diagnostic and Interventional Imaging (2015) 96, 341—348 REVIEW /Muskuloskeletal imaging Eosinophilic fasciitis: Typical abnormalities, variants and differential diagnosis of fasciae abnormalities using MR imaging a,∗ b,c a T. Kirchgesner , B. Dallaudière , P. Omoumi , a a a J. Malghem , B. Vande Berg , F. Lecouvet , d e a F. Houssiau , C. Galant , A. Larbi a Service de radiologie, Département d’imagerie musculo-squelettique, Cliniques Universitaires Saint-Luc, avenue Hippocrate 10-1200, Brussels, Belgium b Département d’imagerie, centre hospitalier universitaire Pellegrin, place Amélie-Léon-Rabat, 33000 Bordeaux, France c Clinique du sport de Bordeaux-Mérignac, 2, rue Négrevergne, 33700 Mérignac, France d Service de Rhumatologie, Cliniques Universitaires Saint-Luc, avenue Hippocrate 10-1200 Brussels, Belgium e Service d’anatomo-pathologie, Cliniques Universitaires Saint-Luc, avenue Hippocrate 10-1200, Brussels, Belgium KEYWORDS Abstract Eosinophilic fasciitis is a rare condition. It is generally limited to the distal parts of Fascia; the arms and legs. MRI is the ideal imaging modality for diagnosing and monitoring this condi- Fasciitis; tion. MRI findings typically evidence only fascial involvement but on a less regular basis signal Eosinophilic; abnormalities may be observed in neighboring muscle tissue and hypodermic fat. Differential Shulman; diagnosis of eosinophilic fasciitis by MRI requires the exclusion of several other superficial and MRI deep soft tissue disorders. © 2015 Éditions franc¸aises de radiologie. Published by Elsevier Masson SAS. All rights reserved. Eosinophilic fasciitis is a rare condition that was first described by Shulman in 1974 [1]. Magnetic resonance imaging (MRI) is the ideal imaging modality both for diagnosing and monitoring this condition. MRI examination typically evidences only fascial involvement but on a less regular basis signal abnormalities may be observed in neighboring muscle tissue and hypodermic fat. -
Inclusion Body Myositis: a Case with Associated Collagen Vascular Disease Responding to Treatment
J Neurol Neurosurg Psychiatry: first published as 10.1136/jnnp.48.3.270 on 1 March 1985. Downloaded from Journal ofNeurology, Neurosurgery, and Psychiatry 1985;48:270-273 Short report Inclusion body myositis: a case with associated collagen vascular disease responding to treatment RJM LANE, JJ FULTHORPE, P HUDGSON UK From the Regional Neurological Centre, Newcastle General Hospital, Newcastle-upon-Tyne, elec- SUMMARY Patients with inclusion body myositis demonstrate characteristic histological and muscle and are generally considered refractory to treatment. tronmicroscopical abnormalities in autoimmune A patient with inclusion body myositis is described with evidence of associated disease, who responded to steroids. muscles. He felt that his legs were quite normal. He denied guest. Protected by copyright. The diagnosis of inclusion body myositis depends symptoms. There was no relevant family or of the characteristic any sensory ultimately on the demonstration drug history. dis- intracytoplasmic and intranuclear filamentous inclu- On examination, he had a prominent bluish/purple sions, and cytoplasmic vacuoles originally described colouration of the knuckles, thickening of the skin on the by Chou in 1968.' However, reviews of reported dorsum of the hands and a slight heliotrope facial rash. The features which facial muscles were slightly wasted and he had marked cases have also emphasised clinical sternomastoids, deltoids, appear to distinguish inclusion body myositis from weakness and wasting of the Prominent among spinatti, biceps and triceps, with relative preservation of other forms of polymyositis.2-7 distal muscles. All upper limb reflexes were grossly these are the lack of associated skin changes or other bulk, power and to diminished or absent. -
NEUROLOGY NEUROSURGERY & PSYCHIATRY Editorial
Journal ofNeurology, Neurosurgery, and Psychiatry 1991;54:285-287 285 J Neurol Neurosurg Psychiatry: first published as 10.1136/jnnp.54.4.285 on 1 April 1991. Downloaded from Joural of NEUROLOGY NEUROSURGERY & PSYCHIATRY Editorial The idiopathic inflammatory myopathies and their treatment The inflammatory myopathies are the largest group of As new knowledge has accumulated over the course of acquired myopathies of adult life and may also occur in the last 10 years, it has become increasingly clear that there infancy and childhood. They have in common the presence are distinct pathological and immunological differences of inflammatory infiltrates within skeletal muscle, usually between polymyositis on the one hand and dermato- in association with muscle fibre destruction. They can be myositis on the other, though in some cases there is clearly subdivided into those which are due to known viral, an overlap between the two conditions. In polymyositis bacterial, protozoal or other microbial agents and those in there is usually scattered necrosis of single muscle fibres which no such agent can be identified and in which which appear hyalinised in the early stages and are immunological mechanisms have been implicated.' The subsequently invaded by mononuclear phagocytic cells. latter group includes polymyositis, dermatomyositis and Regenerating fibres are usually seen singly or in small inclusion body myositis. The evidence for an autoimmune groups distributed focally and randomly throughout the aetiology consists of: 1) an association with other auto- muscle. The inflammatory cell infiltrate is predominantly immune diseases; 2) serological tests which reflect an intrafascicular (endomysial) surrounding muscle fibres altered immune state; and 3) the responsiveness of rather than in the interfascicular septa, though perivascular polymyositis and dermatomyositis, if not of the inclusion infiltrates may also be found; the cellular infiltrate consists body variety, to immunotherapy.2 Polymyositis may rarely mainly of lymphocytes, plasma cells and macrophages. -
Beneath the Surface: Derm Clues to Underlying Disorders
Christian R. Halvorson, MD; Richard Colgan, MD Department of Family and Beneath the surface: Derm clues Community Medicine, University of Maryland School of Medicine, Baltimore to underlying disorders [email protected] Dermatologic fi ndings are frequent indicators of The authors reported no potential confl ict of interest connective tissue disorders. Here’s what to look for. relevant to this article. any systemic conditions are accompanied by skin PRACTICE manifestations. Th is is especially true for connec- RECOMMENDATIONS Mtive tissue disorders, for which dermatologic fi nd- › When evaluating patients ings are often the key to diagnosis. with suspected cutaneous In this review, we describe the dermatologic fi ndings of lupus erythematosus, use some well-known connective tissue disorders. Th e text and multiple criteria—including photographs in the pages that follow will help you hone your histologic and immuno- diagnostic skills, leading to earlier treatment and, possibly, fl uorescent biopsy fi ndings better outcomes. and American College of Rheumatology criteria—to rule out systemic disease. C Lupus erythematosus: Cutaneous › Cancer screening with a and systemic disease often overlap careful history and physi- Lupus erythematosus (LE), a chronic, infl ammatory autoim- cal examination is recom- mended for all adult patients mune condition that primarily aff ects women in their 20s and whom you suspect of having 30s, may initially present as a systemic disease or in a purely dermatomyositis. C cutaneous form. However, most patients with systemic LE have some skin manifestations, and those with cutaneous › Suspect mixed connective LE often have—or subsequently develop—systemic involve- tissue disease in patients 1 with skin fi ndings charac- ment. -
Clinical Aspects of Systemic Sclerosis (Scleroderma)
854 Annals of the Rheumatic Diseases 1991; So: 854-861 Clinical aspects of systemic sclerosis (scleroderma) Richard M Silver Systemic sclerosis (scleroderma) is a disease of course of the illness, one hopes to identify unknown cause, the hallmark of which is patients at greater or lesser risk of developing induration of the skin. Although long regarded certain visceral complications, as well as provide as a bland fibrotic process, there is now ample a more homogeneous group of patients for evidence of an active inflammatory process studies of the pathogenesis, clinical manifesta- underlying thepathogenesisofsystemic sclerosis. tions, and treatment. In addition, microvascular disease and immuno- logical abnormalities are present in most cases. It remains to be determined just how the Clinical features immunological and microvascular changes RAYNAUD'S PHENOMENON relate to the overproduction of collagen and Raynaud's phenomenon refers to episodic digital other matrix elements by the fibroblast, but ischaemia provoked by cold or emotion. recent data suggest that products of the immune Although classically described as triphasic- response may directly affect fibroblasts and that is, pallor followed by cyanosis, and then endothelial cells in vitro. hyperaemia accompanied by numbness and This review will focus on recent advances in pain, such a three colour response does not the understanding of several clinical aspects of occur universally. Pallor seems to be the most systemic sclerosis. The reader is referred to reliable sign and hyperaemia the least reliable several recent chapters and textbooks for a more sign in subjects who lack the classic triphasic extensive review. 1-3 response. A recently described questionnaire and colour chart may facilitate the diagnosis of Raynaud's phenomenon.6 Classification Establishment of the presence or absence of Scleroderma may exist as a localised or a Raynaud's phenomenon is important when systemic disease process. -
Full Application Instructions and Review Procedure NOTE: Full Application Is by Invitation Only After Review of Pre-Application
ORPHAN DISEASE CENTER MILLION DOLLAR BIKE RIDE PILOT GRANT PROGRAM The ODC MDBR Pilot Grant Program provides a one‐year grant to support research related to a rare disease represented in the 2020 Million Dollar Bike Ride. Number of awards and dollar amounts vary per disease based on fundraising totals by each disease team. Eligibility All individuals holding a faculty‐level appointment at an academic institution or a senior scientific position at a non-profit institution or foundation are eligible to respond to this RFA. Letter of Interest Instructions: Please visit our website to submit your Letter of Interest (LOI), which can also be found here. This one-page LOI is due no later than Friday, September 18, 2020 by 8pm (EST). Full Application Instructions and Review Procedure NOTE: Full Application is by invitation only after review of Pre-Application Proposal Due Date: Monday, October 26, 2020 no later than 8pm (EST) Full application documents are to be uploaded on our website, by invitation only. FORMAT for documents: Font and Page Margins: Use Arial typeface, a black font color, and a font size of 11 points. A symbol font may be used to insert Greek letters or special characters. Use 0.5 inch margins (top, bottom, left, and right) for all pages, including continuation pages. Print must be clear and legible; all text should be single-spaced. Header: There should be a header at the top right on all pages of the PDF indicating the full name of the PI (e.g., PI: Smith, John D.). For your convenience, a continuation page template is included at the end of the application document. -
Myositis 101
MYOSITIS 101 Your guide to understanding myositis Patients who are informed, who seek out other patients, and who develop helpful ways of communicating with their doctors have better outcomes. Because the disease is so rare, TMA seeks to provide as much information as possible to myositis patients so they can understand the challenges of their disease as well as the options for treating it. The opinions expressed in this publication are not necessarily those of The Myositis Association. We do not endorse any product or treatment we report. We ask that you always check any treatment with your physician. Copyright 2012 by TMA, Inc. TABLE OF CONTENTS contents Myositis basics ...........................................................1 Diagnosis ....................................................................5 Blood tests .............................................................. 11 Common questions ................................................. 15 Treatment ................................................................ 19 Disease management.............................................. 25 Be an informed patient ............................................ 29 Glossary of terms .................................................... 33 1 MYOSITIS BASICS “Myositis” means general inflammation or swelling of the muscle. There are many causes: infection, muscle injury from medications, inherited diseases, disorders of electrolyte levels, and thyroid disease. Exercise can cause temporary muscle inflammation that improves after rest. myositis